Hs00052743_cn

• Gene Symbol: CRYBB1
• Assay Reference Genome Location: Chr.22:26599419 on build GRCh38
• Cytoband: 22q12.1

Target Gene Details

• Entrez Gene ID: 1414
• Gene Name: crystallin beta B1
• Gene Aliases: CATCN3, CTRCT17
• Location: Chr.22:26599278-26618103 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRYBB1	NM_001887.3			NP_001878.1
	XM_011529899.2	6	966	XP_011528201.1
	BC036790.1			AAH36790.1
	CR456425.1			CAG30311.1
	U35340.1			AAC50383.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2758831	Chr.22:26502533 - 26633932 on Build GRCh38	Loss	TFIP11 TPST2 CRYBB1 LOC100507599 MIR548J CRYBA4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

visual perception

Function(s)

structural constituent of eye lens
protein binding